regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM9_chr8_38991973_39110261 | 39045385 | G | GGTGTGTC others(199): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 332 | 0.0030 | 206 | c.130 others(225): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM9_chr8_38991973_39110261 | 39045389 | T | TGTCTACA others(199): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 332 | 0.0030 | 206 | c.130 others(225): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100058241 | C | CTAACACC others(199): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 HG02647.hp2 others(5): Show |
a0003a0004a0007 | a0003c0009a0004c0003a0004c0030others(1): Show | a0003c0009t0001a0003c0009t0003a0004c0003t0001others(2): Show | a0003c0009t0001g0110a0003c0009t0001g0126a0003c0009t0001g0199others(5): Show | 8 | 228 | 0.0351 | 206 | c.213 others(225): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142500245 | G | GCGCCGCT others(199): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02809.hp2 others(6): Show |
a0001a0012 | a0001c0003a0001c0006a0001c0007others(2): Show | a0001c0003t0003a0001c0006t0001a0001c0007t0001others(3): Show | a0001c0003t0003g0026a0001c0006t0001g0288a0001c0006t0001g0289others(6): Show | 9 | 310 | 0.0290 | 206 | c.267 others(225): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148581082 | T | TACACATA others(199): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0043 | a0001c0001t0025g0081a0001c0001t0043g0006 | 2 | 169 | 0.0118 | 206 | c.48- others(223): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148581082 | T | TACACATA others(199): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02040.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0035a0001c0001t0049a0001c0002t0031others(1): Show | a0001c0001t0035g0078a0001c0001t0049g0105a0001c0002t0031g0148others(1): Show | 4 | 169 | 0.0237 | 206 | c.48- others(223): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15530285 | T | TAGATATT others(199): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 236 | 0.0042 | 206 | c.409 others(225): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1049124 | G | GGGGGGCC others(199): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0187 | 1 | 210 | 0.0048 | 206 | c.429 others(221): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 24/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK3_chr9_4704556_4746202 | 4714010 | A | ACACCTCC others(199): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0064a0001c0001t0003g0273 | 2 | 462 | 0.0043 | 206 | c.564 others(221): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4735372 | A | AATATATA others(199): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02004.hp2 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0074a0001c0001t0003g0234a0001c0001t0003g0289others(2): Show | 5 | 462 | 0.0108 | 206 | c.151 others(223): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4735372 | A | AATATATA others(199): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 462 | 0.0022 | 206 | c.151 others(223): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(199): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 350 | 0.0029 | 206 | c.181 others(223): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99139343 | T | TTCCCTCC others(199): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 48 | 0.0208 | 206 | c.252 others(227): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99139343 | T | TTCCCTCC others(199): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 | 1 | 48 | 0.0208 | 206 | c.252 others(227): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | ||||||
API5_chr11_43306996_43349529 | 43310873 | A | AATATATA others(199): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00639.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0181a0001c0001t0001g0186a0001c0001t0002g0010others(15): Show | 22 | 384 | 0.0573 | 206 | c.-12 others(217): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 1122 | chr11 | TogoVar | ||||||
ARFIP1_chr4_152774954_152917357 | 152804183 | A | ATTATATA others(199): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087a0001c0001t0003g0153a0001c0001t0003g0169 | 3 | 342 | 0.0088 | 206 | c.-10 others(225): Show |
ARFIP1 | ENSG00000164144.16 | transcript | ENST00000353617.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129625509 | A | ATTATATA others(199): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0077a0001c0001t0007g0078 | 2 | 238 | 0.0084 | 206 | c.786 others(223): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1955106 | C | CAGGTGCA others(199): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 NA18612.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0006others(2): Show | a0001c0002t0001a0001c0005t0001a0001c0006t0050others(2): Show | a0001c0002t0001g0050a0001c0002t0001g0274a0001c0005t0001g0078others(4): Show | 7 | 363 | 0.0193 | 206 | c.352 others(225): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1955106 | C | CAGGTGCT others(199): Show |
intron_variant | MODIFIER | HG03239.hp2 HG03927.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0021 | a0001c0003t0001g0057a0001c0003t0021g0318 | 2 | 363 | 0.0055 | 206 | c.352 others(225): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF1_chr19_41878184_41912452 | 41896787 | T | TCCCCTCC others(199): Show |
intron_variant | MODIFIER | HG02922.hp1 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024a0001c0003t0001g0026 | 2 | 234 | 0.0086 | 206 | c.112 others(223): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(199): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0091a0001c0001t0001g0093others(4): Show | 7 | 264 | 0.0265 | 206 | c.102 others(223): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(199): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01934.hp2 HG04228.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0060a0001c0001t0001g0064a0001c0001t0001g0103others(2): Show | 5 | 264 | 0.0189 | 206 | c.102 others(223): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130049620 | G | GGGGGCAG others(199): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 308 | 0.0033 | 206 | c.*51 others(217): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2483 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049930 | G | GGGGGCAG others(199): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0267 | 1 | 308 | 0.0033 | 206 | c.*48 others(217): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2173 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130050070 | C | CACATGGG others(199): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0276 | 1 | 308 | 0.0033 | 206 | c.*46 others(217): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2033 | chr8 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25731214 | A | AGAAAGAA others(199): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0010 | 1 | 122 | 0.0082 | 206 | c.238 others(227): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(199): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 391 | 0.0026 | 206 | c.*36 others(217): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374933 | G | GAGGGAGG others(199): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 184 | 0.0054 | 206 | c.784 others(221): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(199): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02257.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0099a0001c0001t0004g0100a0001c0001t0004g0101others(20): Show | 23 | 298 | 0.0772 | 206 | c.51+ others(219): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(199): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 298 | 0.0034 | 206 | c.51+ others(219): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32252135 | T | TTATATAT others(199): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0015 | 1 | 290 | 0.0035 | 206 | c.426 others(225): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236266 | G | GTATATAT others(199): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0111a0001c0001t0009g0267 | 2 | 386 | 0.0052 | 206 | c.-81 others(225): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236288 | A | ATATATAT others(199): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0005 | 2 | 386 | 0.0052 | 206 | c.-81 others(225): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C10orf90_chr10_126419997_126675693 | 126564835 | T | TATATATA others(199): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 HG02976.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0018 | a0001c0001t0001a0001c0001t0005a0007c0018t0003 | a0001c0001t0001g0006a0001c0001t0001g0038a0001c0001t0005g0039others(2): Show | 5 | 218 | 0.0229 | 206 | c.314 others(225): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
C17orf99_chr17_78141385_78171297 | 78143074 | A | ACAGGTTC others(199): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0035 | 1 | 446 | 0.0022 | 206 | c.-33 others(217): Show |
C17orf99 | ENSG00000187997.12 | transcript | ENST00000340363.10 | protein_coding | 3310 | chr17 | TogoVar | ||||||
C17orf99_chr17_78141385_78171297 | 78167707 | C | CCGCGCCC others(199): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03225.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0123a0001c0001t0009g0144a0001c0001t0009g0146others(1): Show | 4 | 446 | 0.0090 | 206 | c.*16 others(217): Show |
C17orf99 | ENSG00000187997.12 | transcript | ENST00000340363.10 | protein_coding | 1411 | chr17 | TogoVar | ||||||
C17orf99_chr17_78141385_78171297 | 78167707 | C | CCGCGCCC others(199): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01255.hp2 HG02055.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(12): Show | 15 | 446 | 0.0336 | 206 | c.*16 others(217): Show |
C17orf99 | ENSG00000187997.12 | transcript | ENST00000340363.10 | protein_coding | 1411 | chr17 | TogoVar | ||||||
C1orf74_chr1_209774208_209789559 | 209780328 | T | TGTTAGGG others(199): Show |
3_prime_UTR_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0022 | 1 | 446 | 0.0022 | 206 | c.*24 others(217): Show |
C1orf74 | ENSG00000162757.4 | transcript | ENST00000294811.2 | protein_coding | 2/2 | 2496 | chr1 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2407255 | C | CACATCGT others(199): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0046 | 1 | 104 | 0.0096 | 206 | c.478 others(225): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2407525 | C | CGTCCTTT others(199): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0015 | a0001c0015t0034 | a0001c0015t0034g0075 | 1 | 104 | 0.0096 | 206 | c.478 others(225): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2407663 | G | GGTGGACA others(199): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0004 | a0001c0001t0005g0015a0001c0004t0004g0086 | 2 | 104 | 0.0192 | 206 | c.478 others(225): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2407663 | G | GGTGGACA others(199): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02683.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0091 | 2 | 104 | 0.0192 | 206 | c.478 others(225): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(199): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0008 | a0008c0009 | a0008c0009t0007 | a0008c0009t0007g0163 | 1 | 338 | 0.0030 | 206 | c.300 others(223): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185647 | G | GGCATGTG others(199): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0060 | a0060c0061 | a0060c0061t0002 | a0060c0061t0002g0330 | 1 | 338 | 0.0030 | 206 | c.300 others(223): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CADM1_chr11_115164236_115509415 | 115328703 | T | TATATACA others(199): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0133 | 1 | 164 | 0.0061 | 206 | c.125 others(225): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(199): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0150 | 1 | 262 | 0.0038 | 206 | c.218 others(221): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(199): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245 | 1 | 262 | 0.0038 | 206 | c.218 others(221): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816782 | A | ATGTGTGT others(199): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 366 | 0.0027 | 206 | c.645 others(223): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200816963 | T | TGTGTATG others(199): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 366 | 0.0027 | 206 | c.645 others(223): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200816966 | G | GTATGTGC others(199): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19001.hp2 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0282a0001c0001t0001g0284others(2): Show | 5 | 366 | 0.0137 | 206 | c.645 others(223): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |